{
    "disease_id": "DOID:0080283",
    "recommended_name": {
        "id": "DOID:0080283",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080283",
        "name": "developmental and epileptic encephalopathy 55",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080283",
            "name": "early infantile epileptic encephalopathy 55",
            "description": ""
        },
        {
            "id": "DOID:0080283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080283",
            "name": "glycosylphosphatidylinositol biosynthesis defect 14",
            "description": ""
        },
        {
            "id": "DOID:0080283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080283",
            "name": "DEE55",
            "description": ""
        },
        {
            "id": "DOID:0080283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080283",
            "name": "GPIBD14",
            "description": ""
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "developmental and epileptic encephalopathy, 55",
            "description": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22."
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "DEE55",
            "description": ""
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "EIEE55",
            "description": ""
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "developmental and epileptic encephalopathy 55",
            "description": ""
        },
        {
            "id": "MONDO:0033364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033364",
            "name": "epileptic encephalopathy, early infantile, 55",
            "description": ""
        },
        {
            "id": "MIM:617599",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617599",
            "name": "Developmental and epileptic encephalopathy 55",
            "description": "Developmental and epileptic encephalopathy 55"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080283"
    ],
    "unlinked_id_list": []
}